Mouse Genome Informatics
ot1
    Artm1.1Verh/Y
involves: 129S1/Sv * 129X1/SvJ * Black Swiss * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
reproductive system
• at P50, reduced male germ cell numbers were associated with increased apoptosis
• reduced germ cell numbers associated with increased apoptosis
• reduced number of developing germ cells
• absence of elongated spermatids
• absent along with other male structures derived from the Wolffian ducts (J:88169)
• at P12, Leydig cell number was already reduced by 37%, although nonsignificantly relative to wild-type controls
• Leydig cell number was markedly reduced at all later ages, reaching only 22% of wild-type numbers at P140
• unlike in wild-type controls, where the LC cytoplasmic volume was relatively constant up to P20, more than doubled between P20 and P50 and remained constant up to P140, the LC cytoplasmic volume of hemizygous mutant males remained virtually unchanged from P12 to P140, reaching only 60% of that in controls at P140
• immunohistochemistry and quantitative PCR for Leydig cell (LC)-specific markers revealed that steroidogenic function per LC was probably reduced
• at P50, peritubular myoid cells are multilayered
• small tubules without a lumen containing reduced numbers of germ cells
• surrounded by multilayered peritubular myoid cells
• at P50, testis weight was reduced to only 8% of wild-type weight (J:88169)
• at P12, testis weight was already reduced to 43% of wild-type value (J:100799)
• by P140, testis weight was less than 6% of that in wild-type controls (J:100799)
• testes were located in the abdominal or inguinal region
• absent, along with other male structures derived from the Wolffian ducts
• absent, along with other male structures derived from the Wolffian ducts
• genotypic males were phenotypically female
• absence of male structures derived from the Wolffian ducts
• neither uteri nor fallopian tubes were observed in genotypic males

growth/size/body
• growth curves of hemizygous mutant males were similar to those of female littermates

endocrine/exocrine glands
• absent along with other male structures derived from the Wolffian ducts (J:88169)
• at P12, Leydig cell number was already reduced by 37%, although nonsignificantly relative to wild-type controls
• Leydig cell number was markedly reduced at all later ages, reaching only 22% of wild-type numbers at P140
• unlike in wild-type controls, where the LC cytoplasmic volume was relatively constant up to P20, more than doubled between P20 and P50 and remained constant up to P140, the LC cytoplasmic volume of hemizygous mutant males remained virtually unchanged from P12 to P140, reaching only 60% of that in controls at P140
• immunohistochemistry and quantitative PCR for Leydig cell (LC)-specific markers revealed that steroidogenic function per LC was probably reduced
• at P50, peritubular myoid cells are multilayered
• small tubules without a lumen containing reduced numbers of germ cells
• surrounded by multilayered peritubular myoid cells
• at P50, testis weight was reduced to only 8% of wild-type weight (J:88169)
• at P12, testis weight was already reduced to 43% of wild-type value (J:100799)
• by P140, testis weight was less than 6% of that in wild-type controls (J:100799)
• testes were located in the abdominal or inguinal region

homeostasis/metabolism
• a >8-fold increase in serum LH levels relative to control levels at P50 and P140
• however, no significant differences from controls in serum testosterone levels at P50 or P140

embryogenesis
• failure of Wolffian duct development, as shown by absence of ductus deferens, epididymis, and seminal vesicles

cellular
• at P50, reduced male germ cell numbers were associated with increased apoptosis

Mouse Models of Human Disease
OMIM IDRef(s)
Androgen Insensitivity Syndrome; AIS 300068 J:88169